rs10003892
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000507424.1(ENSG00000251408):n.2529G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.52 in 152,092 control chromosomes in the GnomAD database, including 21,149 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
JAKMIP1-DT | NR_037863.1 | n.207+4118G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000507424.1 | n.2529G>A | non_coding_transcript_exon_variant | 2/2 | 2 | |||||
ENST00000508601.2 | n.207+4118G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.520 AC: 78977AN: 151880Hom.: 21133 Cov.: 31
GnomAD4 exome AF: 0.564 AC: 53AN: 94Hom.: 13 Cov.: 0 AF XY: 0.569 AC XY: 41AN XY: 72
GnomAD4 genome ? AF: 0.520 AC: 79015AN: 151998Hom.: 21136 Cov.: 31 AF XY: 0.517 AC XY: 38417AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at